Acute renal failure: A rare initial presentation of acute lymphoblastic leukemia

Acute lymphoblastic leukemia has several presentations associated with bone marrow and extramedullary involvement. The unusual presentation may be due to the infiltration of leukemic cells in any organ. An 11-year-old girl presented with fever and vomiting, since one day before admission after starfish biting during swimming. Her vital signs were: blood pressure 150/100 mmHg, pulse 98 beats per minute, respiration 18 breathes per minute, and temperature 37.2 °C (99 F). Laboratory work-up showed blood urea nitrogen 38 mg/dl and creatinine 2.8 mg/dl. In peripheral blood smear, few atypical cells, mild anemia (Hb: 9.2 g/dl), and mild thrombocytopenia (Platelet: 109,000/µL) were detected. Bone marrow aspiration and immunophenotyping were in favor of acute precursor B cell type lymphoblastic leukemia. The patient had a favorable response to treatment after initiating high-risk chemotherapy. Therefore, acute renal failure can be a rare initial presentation of acute lymphoblastic leukemia, and azotemia will improve with an early chemotherapy treatment

A novel frame-shift deletion in FANCF gene causing autosomal recessive Fanconi anemia: A case report

Background: Fanconi anemia (FA) is a heterogeneous genetic disorder characterized by congenital anomalies, early-onset bone marrow failure, and a high predisposition to cancers. Up to know, different genes involved in the DNA repair pathway, mainly FANCA genes, have been identified to be affected in patients with FA. Case presentation: Here, we report clinical, laboratory and genetic findings in a 3.5-year-old Iranian female patient, a product of a consanguineous marriage, who was suspicious of FA, observed with short stature, microcephaly, skin hyperpigmentation, anemia, thrombocytopenia and hypo cellular bone marrow. Therefore, Next Generation Sequencing was performed to identify the genetic cause of the disease in this patient. Results revealed a novel, private, homozygous frameshift mutation in the FANCF gene (NM-022725: c. 534delG, p. G178 fs) which was confirmed by Sanger sequencing in the proband. Conclusion: Such studies may help uncover the exact pathomechanisms of this disorder and establish the genotype-phenotype correlations by identification of more mutations in this gene. It is the first report of a mutation in the FANCF gene in Iranian patients with Fanconi anemia. This new mutation correlates with a hematological problem (pancytopenia), short stature, and microcephaly and skin hyperpigmentation. Until now, no evidence of malignancy was detected

Cardioprotective effects of deferoxamine in acute and subacute cardiotoxicities of doxorubicin: a randomized clinical trial

Background: Cardiotoxicity is a major concern following doxorubicin (DOX) use in the treatment of malignancies. We aimed to investigate whether deferoxamine (DFO) can prevent acute cardiotoxicity in children with cancer who were treated with DOX as part of their chemotherapy. Results: Sixty-two newly-diagnosed pediatric cancer patients aged 2–18 years with DOX as part of their treatment regimens were assigned to three groups: group 1 (no intervention, n = 21), group II (Deferoxamine (DFO) 10 times DOX dose, n = 20), and group III (DFO 50 mg/kg, n = 21). Patients in the intervention groups were pretreated with DFO 8-h intravenous infusion in each chemotherapy course during and after completion of DOX infusion. Conventional and tissue Doppler echocardiography, serum concentrations of human brain natriuretic peptide (BNP), and cardiac troponin I (cTnI) were checked after the last course of chemotherapy. Sixty patients were analyzed. The level of cTnI was < 0.01 in all patients. Serum BNP was significantly lower in group 3 compared to control subjects (P = 0.036). No significant differences were observed in the parameters of Doppler echocardiography. Significant lower values of tissue Doppler late diastolic velocity at the lateral annulus of the tricuspid valve were noticed in group 3 in comparison with controls. By using Pearson analysis, tissue Doppler systolic velocity of the septum showed a marginally significant negative correlation with DOX dose (P = 0.05, r = − 0.308). No adverse effect was reported in the intervention groups. Conclusions: High-dose DFO (50 mg/kg) may serve as a promising cardioprotective agent at least at the molecular level in cancer patients treated with DOX. Further multicenter trials with longer follow-ups are needed to investigate its protective role in delayed DOX-induced cardiac damage. Trial registration IRCT, IRCT2016080615666N5. Registered 6 September 2016

Successful treatment of refractory metastatic neuroblastoma with panobinostat in combination with chemotherapy agents and iodine-131-meta-iodobenzylguanidine therapy

Introduction: Neuroblastoma commonly required multimodal therapy containing surgery, chemotherapy, radiotherapy, and immunotherapy. Case report: In our case, who had refractory metastatic neuroblastoma, we use histone deacetylase inhibitor (panobinostat) in combination with chemotherapy agents and iodine-131-meta-iodobenzylguanidine (MIBG) therapy. Management and outcome: This approach leads to successfully treat the patient. MIBG scan and bone marrow examination after therapy revealed no evidence of tumor. Now, she underwent autologous transplantation six months ago and free of tumor. Conclusion: Panobinostat can cause apoptosis induction in refractory metastatic neuroblastoma in combination with MIBG therapy and chemotherapy

Comparison of thrombin generation assay with conventional coagulation tests in evaluation of bleeding risk in patients with rare bleeding disorders

Based on the premise that the capacity of plasma to generate thrombin in vitro is a comprehensive and precise functional test of the clotting system, we designed a cross-sectional, single-center study involving 83 patients with rare bleeding disorders (RBDs) to compare the usefulness of the thrombin generation (TG) assay versus conventional tests including prothrombin time (PT) and activated partial thromboplastin time (aPTT) in predicting bleeding risk in patients with RBD in southern Iran. The TG parameters consisted of endogenous thrombin potential, lag time, peak, time to peak (ttPeak), and start tail. The area under the receiver- operating characteristic (ROC) curve showed statistically significant associations between bleeding risk and lag time, ttPeak, and start tail. We determined cutoff values for these 3 TG parameters and obtained a negative predictive value of 86% to 90% in patients with RBD who had a bleeding score (BS) 6413. The ROC curves for the association of PT and aPTT with BS did not indicate any significant association. Correlation analysis supported the results of ROC curve analysis, only lag time, ttPeak, and start tail showed significant positive correlations with BS (P < .05). Disease severity based on plasma factor activity was significantly associated with prolonged lag time and ttPeak and with prolonged PT (P <.05). We suggest that TG assay is a potentially more useful tool for predicting the bleeding risk in patients with RBD. However, the small sample size in different RBD subgroups precluded subgroup analysis. Prospective multicenter studies with larger numbers of patients are therefore advisable

Deferoxamine protective effect in preventing nephrotoxicity in childreunder treatment with doxorubicin: A randomized clinical trial

Background: Nephrotoxicity secondary to doxorubicin (DOX) may be associated with high morbidity and mortality rates. We aimed to assess the efficacy of Deferoxamine (DFO) in preventing DOX-induced nephrotoxicity in pediatric malignancy. Methods: This Parallel-group randomized clinical trial was done on 62 children aged 2-18 years who had new onset malignancy treated with DOX. They were randomly assigned in three groups; group 1 (no intervention, n=21), group II (DFO 10 times DOX dose, n=20), group III (DFO 50mg/kg, n=21). Patients in the intervention groups received DFO concomitant with DOX 8-hour intravenous infusion in each chemotherapy course. Blood urea nitrogen, serum creatinine, electrolytes, calcium, phosphorus, magnesium and albumin levels, urine microalbumin, urine protein/creatinine ratio, and urine N-acetyl-β-D-glucosaminidase (NAG) as well as findings of kidney ultrasonography were compared between the groups after the last course of chemotherapy. The primary outcome was to compare the radiologic and serologic markers of glomerular and tubular damage between the 3 groups. Results: Sixty patients were analyzed. Patients treated with DFO 10 times the dose of DOX had significantly lower urine NAG level compared to the control group (P=0.032). No significant renal damage was reported in their ultrasonography in the 3 groups. DFO was safely tolerated without any adverse effect. Conclusion: DFO with 10-times the DOX dose may effectively prevent DOX-induced nephrotoxicity at least at the molecular level. Increasing the dose of DFO is not accompanied by better efficacy

Supplementary Material for: Large retroperitoneal teratoma presenting with unilateral hydronephrosis in an infant: a case report and review of the literature

Teratoma is a type of germ cell tumor layer that appears in the gonadal, sacrococcygeal, mediastinal, and retroperitoneal regions. Primary retroperitoneal teratoma is rare and asymptomatic but can present with symptoms due to a mass effect on neighboring organs. These tumors have to be considered in the differential diagnosis of a mass in the abdominal cavity of children to distinguish between Wilms’ tumor, neuroblastoma, and other intraabdominal lesions. We presented an infant boy with protrusion of the left upper quadrant of the abdomen and a palpable abdominal mass that had progressively enlarged. An abdominal computed tomography (CT) scan revealed a large retroperitoneal cystic, solid mass on the left side of the abdominal cavity, causing pressure on the left ureter. Also, hydronephrosis of the left kidney was seen with a decreased enhancement of the left kidney due to obstruction uropathy. The mass was suspicious on imaging for a retroperitoneal teratoma. The patient underwent laparotomy, and excision of the huge retroperitoneal mass was done. The final diagnosis was an immature teratoma grade 3, and the patient was discharged in good condition. Retroperitoneal teratomas are rare tumors in infants. These tumors would be an incident diagnosis or diagnosed by the mass effect of giant tumors on other organs. They must be considered in the differential diagnosis of intraabdominal tumors in children. Hydronephrosis and obstructive uropathy can be rare consequences of the mass effects of these tumors